Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.G471*
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APC

NM_000038.6:p.G471*

Associated Papers

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

Liao H et al.

American Journal of Cancer Research, 2021

Genomic Profiling of Blood-Derived Circulating Tumor DNA from Patients with Colorectal Cancer: Implications for Response and Resistance to Targeted Therapeutics.

Choi IS et al.

Molecular Cancer Therapeutics, 2019

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Porkka N et al.

Oncotarget, 2017

29296220 (PubMed )
Supplement: oncotarget-08-108020-s006.xlsx › Sheet1

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Stekrova J et al.

Bmc Medical Genetics, 2007

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

Vandrovcová J et al.

Human Mutation, 2004

APC germline mutations identified in Czech patients with familial adenomatous polyposis.

Kohoutová M et al.

Human Mutation, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."